Gene
popdc1
- ID
- ZDB-GENE-040624-11
- Name
- popeye domain cAMP effector 1
- Symbol
- popdc1 Nomenclature History
- Previous Names
-
- pop1 (1)
- bves
- zgc:86887
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have cAMP binding activity and structural molecule activity. Involved in several processes, including animal organ development; bicellular tight junction assembly; and skeletal myofibril assembly. Localizes to sarcolemma. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2X. Is expressed in several structures, including EVL; cardiovascular system; eye; integument; and optic vesicle. Orthologous to human BVES (blood vessel epicardial substance).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6907272 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2X | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 25 | 616812 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| tetralogy of Fallot | AB + MO1-popdc1 | standard conditions | Shi et al., 2020 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cyclic nucleotide-binding domain superfamily | RmlC-like jelly roll fold |
|---|---|---|---|
|
UniProtKB:G9HVJ5
|
352 | ||
|
UniProtKB:Q5PQZ7
|
352 |
Interactions and Pathways
No data available
Plasmids
No data available